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Segregation of novel p.(Ser270Tyr) MAF mutation and p.(Tyr56*) CRYGD variant in a family with dominantly inherited congenital cataracts
Author(s) -
Liskova P.,
Dudakova L.,
Stranecky V.,
Hlavova E.,
Vincent A.
Publication year - 2017
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2017.02784
Subject(s) - genetics , exome sequencing , proband , sanger sequencing , biology , mutation , exome , population , penetrance , genetic heterogeneity , gene , phenotype , medicine , environmental health